Related gene-specific medical variations for Gene (Select 80014) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267605	NM_001111319.3(CLDN22):c.656A>T (p.Lys219Ile)	CLDN22, WWC2 (K219I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267604	NM_001111319.3(CLDN22):c.550C>A (p.His184Asn)	CLDN22, WWC2 (H184N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145495	NM_001111319.3(CLDN22):c.563G>A (p.Cys188Tyr)	CLDN22, WWC2 (C188Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145494	NM_001111319.3(CLDN22):c.542G>T (p.Cys181Phe)	CLDN22, WWC2 (C181F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145493	NM_001111319.3(CLDN22):c.485T>C (p.Phe162Ser)	CLDN22, WWC2 (F162S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145492	NM_001111319.3(CLDN22):c.320T>C (p.Ile107Thr)	CLDN22, WWC2 (I107T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145491	NM_001111319.3(CLDN22):c.252G>A (p.Met84Ile)	CLDN22, WWC2 (M84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605948	NM_001111319.3(CLDN22):c.536G>A (p.Gly179Glu)	CLDN22, WWC2 (G179E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601719	NM_001111319.3(CLDN22):c.37G>A (p.Gly13Arg)	CLDN22, WWC2 (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495976	NM_001111319.3(CLDN22):c.568A>G (p.Ser190Gly)	CLDN22, WWC2 (S190G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488941	NM_001111319.3(CLDN22):c.70T>C (p.Ser24Pro)	CLDN22, WWC2 (S24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481550	NM_001111319.3(CLDN22):c.136T>C (p.Trp46Arg)	CLDN22, WWC2 (W46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458303	NM_001111319.3(CLDN22):c.602T>C (p.Val201Ala)	CLDN22, WWC2 (V201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410971	NM_001111319.3(CLDN22):c.409G>A (p.Val137Ile)	CLDN22, WWC2 (V137I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399188	NM_001111319.3(CLDN22):c.140C>A (p.Thr47Asn)	CLDN22, WWC2 (T47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391985	NM_001111319.3(CLDN22):c.124G>A (p.Glu42Lys)	CLDN22, WWC2 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292164	NM_001111319.3(CLDN22):c.236T>C (p.Val79Ala)	CLDN22, WWC2 (V79A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252087	NM_001111319.3(CLDN22):c.49T>C (p.Ser17Pro)	CLDN22, WWC2 (S17P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215592	NM_024949.6(WWC2):c.553A>G (p.Met185Val)	WWC2, WWC2-AS1 (M185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214566	NM_001111319.3(CLDN22):c.574G>A (p.Ala192Thr)	CLDN22, WWC2 (A192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808093	GRCh37/hg19 4q35.1(chr4:183958652-184213971)x3	WWC2	Copy number gain	not provided	GUncertain significance

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Links from Gene

Items: 21